If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#6766). For Presymptomatic Testing with known familial mutation(s), please order test (#6766). Please see detailed requirements under this test code.

Technical Information

Methodology:

Sequence analysis is performed in both forward and reverse directions and Multiplex Ligation-dependent Probe Amplification (MLPA) analysis is performed to detect gross deletion and duplications